Variant (rsID / SNP)
rs118192170
rs118192170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,075,629. Clinical significance in the table: drug response.
Reference-table entries
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39075629
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
- Allele change
- Missense_I4893T
Associated conditions / phenotypes
Central core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|desflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.